Bali D - Search Results

1

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Smith EC, et al. Among authors: bali d. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18. Mol Ther. 2023. PMID: 36805083 Clinical Trial.

2

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

Johnson AO, Goldstein JL, Bali D. Johnson AO, et al. Among authors: bali d. J Pediatr Gastroenterol Nutr. 2012 Jul;55(1):90-2. doi: 10.1097/MPG.0b013e31823276ea. J Pediatr Gastroenterol Nutr. 2012. PMID: 21857251 No abstract available.

3

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK. Sista RS, et al. Among authors: bali d. Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7. Clin Chim Acta. 2013. PMID: 23660237 Free PMC article.

4

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC, Chang CJ, Bali D, Chen YT, Yan YT. Lee YC, et al. Among authors: bali d. Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12. Hum Mol Genet. 2011. PMID: 21075835

5

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC. Li SC, et al. J Child Neurol. 2012 Feb;27(2):204-8. doi: 10.1177/0883073811415107. Epub 2011 Sep 13. J Child Neurol. 2012. PMID: 21917543

6

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Magoulas PL, et al. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Hum Pathol. 2012. PMID: 22305237 Review.

7

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS. Li SC, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5. Epub 2010 Jan 8. J Inherit Metab Dis. 2010. PMID: 20058079

8

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

Amos CI, Bali D, Thiel TJ, Anderson JP, Gourley I, Frazier ML, Lynch PM, Luchtefeld MA, Young A, McGarrity TJ, Seldin MF. Amos CI, et al. Among authors: bali d. Cancer Res. 1997 Sep 1;57(17):3653-6. Cancer Res. 1997. PMID: 9288765

9

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Matern D, et al. Among authors: bali d. Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. doi: 10.1007/s00431-002-0998-5. Epub 2002 Jul 27. Eur J Pediatr. 2002. PMID: 12373566

10

Glycogen storage disease type IIIa in curly-coated retrievers.

Gregory BL, Shelton GD, Bali DS, Chen YT, Fyfe JC. Gregory BL, et al. J Vet Intern Med. 2007 Jan-Feb;21(1):40-6. doi: 10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2. J Vet Intern Med. 2007. PMID: 17338148 Free article.

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